ODCs

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Stickler syndrome type 1

2 OMIM references -
1 associated gene
22 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Severe generalized recessive dystrophic epidermolysis bullosa

1 OMIM reference -
2 associated genes
35 signs/symptoms

Stickler syndrome type 1

Severe generalized recessive dystrophic epidermolysis bullosa

COL2A1	(UniProt - OMIM)		COL7A1	(UniProt - OMIM)
			MMP1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1	(0.52)	MMP1

Citations in the biomedical literature:

Stickler syndrome type 1		Severe generalized recessive dystrophic epidermolysis bullosa
	Synonym(s): (no synonyms)		Synonym(s): - Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis - Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type - RDEB generalisata gravis - RDEB, Hallopeau-Siemens type - RDEB-sev gen - Severe generalized RDEB

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: adult Type of inheritance: autosomal recessive

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Visual loss / blindness / amblyopia

Stickler syndrome type 1		Severe generalized recessive dystrophic epidermolysis bullosa
	Very frequent - Autosomal dominant inheritance - Cataract / lens opacification - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Long philtrum - Myopia - Retinal detachment - Short / small nose - Vitreous anomalies / hyalitis / persistent vitreous vascularisation Frequent - Articular / joint pain / arthralgia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Epiphyseal anomaly - Epiphyseal vertebral anomaly - Hyperextensible joints / articular hyperlaxity - Marfanoid morphotype - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Osteoarthritis - Platyspondyly - Proptosis / exophthalmos - Sensorineural deafness / hearing loss Occasional - Intellectual deficit / mental / psychomotor retardation / learning disability		Very frequent - Abnormal fingernails - Abnormal scarring / cheloids / hypertrophic scars - Abnormal toenails - Absent / small fingernails / anonychia of hands - Absent / small toenails / anonychia of feet - Anaemia - Ankyloglossia / lingual synechiae - Anus / rectum anomalies - Autosomal recessive inheritance - Constipation - Enanthema / aphtosa / aphta / leukoplakia - Failure to thrive / difficulties for feeding in infancy / growth delay - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Follicular / erythematous / edematous papules / milium - Microstomia / little mouth - Multiple caries - Pruritus / itching - Skin hypoplasia / aplasia / atrophy - Tracheo-esophageal fistula / esophageal atresia / stenosis - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Alopecia - Anomalies of hands - Corneal ulceration / perforation - Foot anomalies - Late puberty / hypogonadism / hypogenitalism - Musculo-tendinous retractions - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Syndactyly of fingers / interdigital palm - Syndactyly of toes Occasional - Anomalies of eyelids, eyelashes and lacrimal system - Blepharitis / eyelid inflammation - Ectropion / entropion / eyelid eversion - Mild visual loss / impaired visual acuity